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Table 4 Comparison of the genotype between patients with and without arrhythmia and with normal or decreased ejection fraction

From: Myocardial disease and ventricular arrhythmia in Marfan syndrome: a prospective study

  Non-sustained ventricular tachycardia Left-ventricular ejection fraction
Present (n = 20) Absent (n = 64)a p value  < 55% (n = 7)  ≥ 55% (n = 77) p value
Type of variant
 Missense (%) 7 (35) 35 (54.7) 0.100 1 (14.3) 41 (52.6) 0.058
 Inframe (%) 1 (5) 0 (0) 0.238 0 (0) 1 (10.3) 0.918
 Frameshift (%) 5 (25) 14 (21.9) 0.494 4 (57.1) 16 (20.5) 0.050
 Nonsense (%) 4 (20) 11 (17.2) 0.747 0 (0) 15 (19.2) 0.243
 Splice-site (%) 3 (15) 4 (6.3) 0.349 2 (28.6) 5 (6.4) 0.100
Effect on the protein
 Haploinsufficiency (%) 9 (45) 24 (37.5) 0.128 4 (57.1) 30 (38.5) 0.283
Localization: exon
 Exon 24–32 (%) 2 (10) 8 (12.5) 0.559 0 (0) 10 (12.8) 0.402
  1. Values are given as number (%)
  2. aVariant details were lacking in one patient. Another patient declined ambulatory ECG